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ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide)

Identity

Other namesAHC2
DYT12
RDP
HGNC (Hugo) ATP1A3
LocusID (NCBI) 478
Location 19q13.2
Location_base_pair Starts at 42470734 and ends at 42497619 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)ATP1A3   801
Cards
Entrez_Gene (NCBI)ATP1A3  478  ATPase, Na+/K+ transporting, alpha 3 polypeptide
GeneCards (Weizmann)ATP1A3
Ensembl (Hinxton)ENSG00000105409 [Gene_View]  chr19:42470734-42497619 [Contig_View]  ATP1A3 [Vega]
ICGC DataPortalENSG00000105409
AceView (NCBI)ATP1A3
Genatlas (Paris)ATP1A3
WikiGenes478
SOURCE (Princeton)NM_001256213 NM_001256214 NM_152296
Genomic and cartography
GoldenPath (UCSC)ATP1A3  -  19q13.2   chr19:42470734-42497619 -  19q13.2   [Description]    (hg19-Feb_2009)
EnsemblATP1A3 - 19q13.2 [CytoView]
Mapping of homologs : NCBIATP1A3 [Mapview]
OMIM128235   182350   614820   
Gene and transcription
Genbank (Entrez)AK054736 AK094628 AK122693 AK223569 AK293784
RefSeq transcript (Entrez)NM_001256213 NM_001256214 NM_152296
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_008015 NT_011109 NW_001838496 NW_004929415
Consensus coding sequences : CCDS (NCBI)ATP1A3
Cluster EST : UnigeneHs.515427 [ NCBI ]
CGAP (NCI)Hs.515427
Alternative Splicing : Fast-db (Paris)GSHG0015853
Alternative Splicing GalleryENSG00000105409
Gene ExpressionATP1A3 [ NCBI-GEO ]     ATP1A3 [ SEEK ]   ATP1A3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13637 (Uniprot)
NextProtP13637  [Medical]
With graphics : InterProP13637
Splice isoforms : SwissVarP13637 (Swissvar)
Catalytic activity : Enzyme3.6.3.9 [ Enzyme-Expasy ]   3.6.3.93.6.3.9 [ IntEnz-EBI ]   3.6.3.9 [ BRENDA ]   3.6.3.9 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_Na/K_IIC    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    Cation_transp_P_typ_ATPase    HAD-like_dom   
Related proteins : CluSTrP13637
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)    Hydrolase (PF00702)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122    pfam00702   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
DMDM Disease mutations478
Blocks (Seattle)P13637
Human Protein AtlasENSG00000105409
Peptide AtlasP13637
HPRD01666
IPIIPI00302840   IPI00790327   IPI00647099   IPI01014826   IPI00788782   
Protein Interaction databases
DIP (DOE-UCLA)P13637
IntAct (EBI)P13637
FunCoupENSG00000105409
BioGRIDATP1A3
InParanoidP13637
Interologous Interaction database P13637
IntegromeDBATP1A3
STRING (EMBL)ATP1A3
Ontologies - Pathways
Ontology : AmiGOsodium:potassium-exchanging ATPase activity  ATP binding  nucleus  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  ATP biosynthetic process  potassium ion transport  memory  adult locomotory behavior  visual learning  integral component of membrane  axon  D1 dopamine receptor binding  ion transmembrane transport  ionotropic glutamate receptor signaling pathway  sodium ion transmembrane transport  sodium ion transmembrane transport  response to drug  myelin sheath  dendritic spine neck  dendritic spine head  synapse  metal ion binding  transmembrane transport  
Ontology : EGO-EBIsodium:potassium-exchanging ATPase activity  ATP binding  nucleus  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  ATP biosynthetic process  potassium ion transport  memory  adult locomotory behavior  visual learning  integral component of membrane  axon  D1 dopamine receptor binding  ion transmembrane transport  ionotropic glutamate receptor signaling pathway  sodium ion transmembrane transport  sodium ion transmembrane transport  response to drug  myelin sheath  dendritic spine neck  dendritic spine head  synapse  metal ion binding  transmembrane transport  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Insulin secretion    Thyroid hormone synthesis    Thyroid hormone signaling pathway    Aldosterone-regulated sodium reabsorption    Endocrine and other factor-regulated calcium reabsorption    Proximal tubule bicarbonate reclamation    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Carbohydrate digestion and absorption    Protein digestion and absorption    Bile secretion    Mineral absorption   
Protein Interaction DatabaseATP1A3
Wikipedia pathwaysATP1A3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP1A3
SNP (GeneSNP Utah)ATP1A3
SNP : HGBaseATP1A3
Genetic variants : HAPMAPATP1A3
1000_GenomesATP1A3 
ICGC programENSG00000105409 
CONAN: Copy Number AnalysisATP1A3 
Somatic Mutations in Cancer : COSMICATP1A3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
Mutations and Diseases : HGMDATP1A3
OMIM128235    182350    614820   
MedgenATP1A3
GENETestsATP1A3
Disease Genetic AssociationATP1A3
Huge Navigator ATP1A3 [HugePedia]  ATP1A3 [HugeCancerGEM]
Genomic VariantsATP1A3  ATP1A3 [DGVbeta]
Exome VariantATP1A3
dbVarATP1A3
ClinVarATP1A3
snp3D : Map Gene to Disease478
General knowledge
Homologs : HomoloGeneATP1A3
Homology/Alignments : Family Browser (UCSC)ATP1A3
Phylogenetic Trees/Animal Genes : TreeFamATP1A3
Chemical/Protein Interactions : CTD478
Chemical/Pharm GKB GenePA64
Clinical trialATP1A3
Cancer Resource (Charite)ENSG00000105409
Other databases
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
CoreMineATP1A3
iHOPATP1A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:33:38 CEST 2014

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